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PROP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PROP1 gene

The PROP1 gene provides instructions for making a transcription factor that controls pituitary gland development and the production of critical hormones.

Normal Function

The PROP1 gene provides instructions for making a transcription factor, which is a protein that controls the activity of many other genes. The PROP1 protein is found only in the pituitary gland, which is located at the base of the brain. The pituitary gland produces and releases hormones that are needed for growth, development, and other critical body functions. The PROP1 protein helps cell types specialize (differentiate) within the pituitary gland.

Health Conditions Related to Genetic Changes

Combined pituitary hormone deficiency

Many variants (also called mutations) in the PROP1 gene have been found to cause combined pituitary hormone deficiency. This condition causes a partial or complete loss (deficiency) of two or more pituitary hormones. Typically these hormones include:

  • Growth hormone, which is necessary for proper growth.
  • Thyroid stimulating hormone, which triggers the release of hormones that control how the body uses energy.
  • Prolactin, which stimulates the production of breast milk.

Pituitary function may worsen over time in people with combined pituitary hormone deficiency, which can lead to a condition in which the small glands on top of the kidneys (the adrenal glands) do not produce enough hormones (adrenal insufficiency).

The most common PROP1 gene variants delete one or two DNA building blocks (base pairs) in the PROP1 gene. These deletions cause cells to produce an abnormally short version of the protein. The shortened protein is not able to regulate the activity of other genes as it should. These protein changes can disrupt pituitary cell differentiation, which may reduce or prevent the production of several pituitary hormones. A lack of pituitary hormones can cause short stature, delayed or absent puberty, and the other signs and symptoms seen in people with combined pituitary hormone deficiency.

Other Names for This Gene

  • homeobox protein prophet of Pit-1
  • pituitary-specific homeodomain factor
  • PROP-1
  • prophet of Pit1, paired-like homeodomain transcription factor

Frequently Asked Questions

This condition is often inherited in an autosomal dominant pattern, meaning a child has a 50 percent chance of inheriting the mutated PROP1 gene from an affected parent. However, the severity of symptoms can vary significantly even within the same family, a phenomenon known as variable expressivity. Genetic counseling is recommended for families to assess the risk for siblings and future children, and genetic testing can help confirm the diagnosis and identify the specific variant involved.
With proper diagnosis and consistent hormone replacement therapy, individuals can achieve normal growth, development, and quality of life. The primary long-term concern is the potential for progressive pituitary dysfunction, which may require the addition of other hormones, such as cortisol, as the condition evolves. Regular medical follow-up is crucial to monitor for complications such as adrenal crisis and to ensure that hormone levels remain optimized for the individual's age and health status.
Early signs often include poor weight gain, failure to thrive, and delayed growth milestones. Infants may exhibit hypoglycemia (low blood sugar), which can cause lethargy, irritability, or seizures. In older children, symptoms may include short stature, delayed puberty, and fatigue. Because the pituitary gland controls multiple hormones, symptoms can vary widely depending on which hormones are deficient, such as growth hormone, thyroid-stimulating hormone, or prolactin.
Management involves lifelong hormone replacement therapy to address specific deficiencies. This typically includes growth hormone injections, thyroid hormone replacement, and glucocorticoids if adrenal insufficiency develops. While the underlying genetic defect in the PROP1 gene cannot be cured, consistent hormone replacement allows for normal growth, development, and metabolic function. Regular monitoring by an endocrinologist is essential to adjust dosages as the patient grows and to detect any worsening of pituitary function over time.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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